Revel Score:
ENST00000279593
0.032
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13563145T>G , CM000674.2:g.13563145T>G | GRCh38 |
| NC_000012.11:g.13716079T>G , CM000674.1:g.13716079T>G | GRCh37 |
| NC_000012.10:g.13607346T>G | NCBI36 |
| NG_031854.1:g.421944A>C | |
| NG_031854.2:g.423868A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.4093A>C MANE Select | ENSP00000477455.1:p.Asn1365His | |
| ENST00000637214.1:c.69+45458A>C | ENSP00000489997.1:n.69+45458A>C | |
| ENST00000609686.3:c.4093A>C | ENSP00000477455.1:p.Asn1365His | |
| ENST00000628166.1:n.2353A>C | ||
| NM_000834.3:c.4093A>C | NP_000825.2:p.Asn1365His | |
| XM_005253351.2:c.1879A>C | XP_005253408.1:p.Asn627His | |
| XM_011520628.1:c.4093A>C | XP_011518930.1:p.Asn1365His | |
| XM_011520629.1:c.4093A>C | XP_011518931.1:p.Asn1365His | |
| XM_011520630.1:c.4093A>C | XP_011518932.1:p.Asn1365His | |
| NM_000834.4:c.4093A>C | NP_000825.2:p.Asn1365His | |
| XM_005253351.3:c.1879A>C | XP_005253408.1:p.Asn627His | |
| XM_011520628.2:c.4093A>C | XP_011518930.1:p.Asn1365His | |
| XM_011520629.2:c.4093A>C | XP_011518931.1:p.Asn1365His | |
| XM_017019219.2:c.4093A>C | XP_016874708.1:p.Asn1365His | |
| NM_000834.5:c.4093A>C MANE Select | NP_000825.2:p.Asn1365His |